'American Association for Clinical Chemistry (AACC)'
Publication date
01/01/2016
Field of study
BACKGROUND: The substantial technological advancements in next-generation sequencing (NGS), combined with dropping costs, have allowed for a swift diffusion of NGS applications in clinical settings. Although several commercial parties report to have broken the 1000barrierforsequencinganentirehumangenome,avalidcostoverviewforNGSiscurrentlylacking.Thisstudyprovidesacomplete,transparentandup−to−dateoverviewofthetotalcostsofdifferentNGSapplications.METHODS:Costcalculationsfortargetedgenepanels(TGP),wholeexomesequencing(WES)andwholegenomesequencing(WGS)werebasedontheIlluminaNextSeq500,HiSeq4000,andHiSeqX5platforms,respectively.Toanticipatefuturedevelopments,sensitivityanalysesareperformed.RESULTS:Per−samplecostswereeuro1669forWGS,euro792forWESandeuro333forTGP.Toreachthecoveted1000 genome, not only is the long-term and efficient use of the sequencing equipment needed, but also large reductions in capital costs and especially consumable costs are also required. CONCLUSIONS: WES and TGP are considerably lower-cost alternatives to WGS. However, this does not imply that these NGS approaches should be preferred in clinical practice, since this should be based on the tradeoff between costs and the expected clinical utility of the approach chosen. The results of the present study contribute to the evaluation of such tradeoffs